1.Flexible endoscopic management of foreign body ingestion in children: A ten-year single-center retrospective study in the Philippines.
Jeremiah C. Torrico ; Germana Emerita V. Gregorio
Acta Medica Philippina 2026;60(1):45-56
BACKGROUND AND OBJECTIVE
Foreign body (FB) ingestion is a common pediatric concern in the Philippines, but local studies on flexible endoscopic management are lacking. This study aimed to describe the clinical profile and outcomes of children referred for flexible endoscopic management and identify factors associated with poor outcomes.
METHODSThis retrospective cohort study included 145 patients aged
RESULTSMost FB ingestions (96.55%) were accidental, with coins as the most common FB (56.55%). Patients were admitted an average of 40.42 hours post-ingestion and referred for endoscopy within 9.28 hours. Flexible endoscopy was performed in 44.83% of cases, with a 98.46% success rate and an average procedure time of 32.25 minutes. Spontaneous passage occurred in 50.34% of cases. Poor outcomes were linked to age 48 hours; OR: 15.43, p = 0.0181), and prolonged procedures (>30 minutes; OR: 12, p = 0.0318). Good outcomes were associated with unremarkable physical exams (OR: 0.078; p = 0.0018), early admission (CONCLUSION
Flexible endoscopy is effective and safe for FB extraction in children. Early admission and timely intervention significantly improve outcomes, while delays and prolonged procedures increase the risk of complications.
Human ; Adolescent: 13-18 Yrs Old ; Child: 6-12 Yrs Old ; Foreign Bodies ; Endoscopy ; Child ; Retrospective Studies ; Aged ; Cohort Studies ; Eating ; Methods ; Numismatics ; Patients ; Philippines ; Physical Examination ; Time
2.Quality of care among patients with acute heart failure at the emergency room and adherence of physicians at the University of the Philippines – Philippine General Hospital to the division of cardiovascular medicine – heart failure pathway:A retrospective cohort study.
Mark John D. Sabando ; Felix Eduardo R. Punzalan ; Frances Dominique V. Ho ; Tam Adrian P. Aya-ay ; Kevin Paul Da. Enriquez ; Marie Kirk A. Maramara ; Ronald Allan B. Roderos ; Lauren Kay M. Evangelista
Acta Medica Philippina 2026;60(2):22-32
OBJECTIVES
Clinical pathways (CPs) ensure adherence to heart failure (HF) management guidelines. To optimize quality care in a low resource setting, an evidence-based care pathway for the management of acute HF was implemented at the emergency department (ED) of the Philippine General Hospital (PGH), the designated national tertiary hospital and referral center. This study aimed to describe the characteristics of adults with acute HF admitted at the ED and evaluate the quality of care they received, measured using physician adherence to the hospital’s acute heart failure CP.
METHODSThis was a retrospective, descriptive cohort study. We reviewed the inpatient charts of all adult patients with acute HF admitted to the ED of the PGH and referred to the Division of Cardiovascular Medicine between December 1, 2022 and May 31, 2023. Quality of care was assessed based on adherence to quality indicators adapted from routine and conditional order sets detailed in the pathway. Descriptive statistics was utilized to describe patient characteristics, quality of care, and outcomes.
RESULTSTwo hundred thirty-six (236) patients were included, with a mean age of 51.8 years. Majority were male (53.4%); hypertension (61.4%) and ischemic heart disease (53.8%) were the most common comorbidities, and infection the most common precipitant of decompensation (60.6%). There were optimal adherence rates to routine orders, which included referrals to Internal Medicine and Cardiology, baseline vital signs monitoring, fluid intake and output monitoring, chest radiograph, complete blood count, blood urea nitrogen, sodium, potassium, prothrombin time, partial thromboplastin time, arterial blood gas, urinalysis, and N-terminal pro b-type natriuretic peptide. Conditional orders, such as oxygen support, focused echocardiography, thyroid - stimulating hormone, and the use of vasopressors, diuretics, and venous thromboembolism prophylactic agents, were optimally performed when warranted. However, we noted suboptimal adherence to certain resource-intensive conditional orders, such as hourly monitoring of urine output (61.4%), hooking to cardiac monitor (53.8%), and performance of 12-lead ECG within 10 minutes (56.8%). Further, only 43.9% of patients were referred to the intensive care unit. Troponin I, calcium, magnesium, and albumin were ordered in excess.
CONCLUSIONOverall adherence rate of physicians to the hospital’s Acute Heart Failure Pathway was satisfactory. Work is needed to improve adherence to hourly urine output monitoring, consistent hooking to cardiac monitor, and timely performance of 12-lead ECG – an effort that begins with expanding in-hospital diagnostic equipment and human resource supply. We recommend continuous pathway implementation with periodic evaluation and stakeholder feedback to further improve quality of care.
Human ; Male ; Female ; Middle Aged: 45-64 Yrs Old ; Adult ; Albumins ; Blood ; Blood Urea Nitrogen ; Calcium ; Cardiology ; Chart ; Charts ; Cohort Studies ; Critical Care ; Critical Pathways ; Diagnostic Equipment ; Disease ; Diuretics ; Echocardiography ; Electrocardiography ; Emergencies ; Emergency Service, Hospital ; Equipment And Supplies ; Evaluation Studies As Topic ; Feedback ; Heart ; Heart Diseases ; Heart Failure ; Hormones ; Hospitals ; Hospitals, General ; Humans ; Hypertension ; Indicators And Reagents ; Infection ; Infections ; Inpatients ; Intensive Care Units ; Internal Medicine ; Lead ; Magnesium ; Male ; Medicine ; Myocardial Ischemia ; Natriuretic Peptide, Brain ; Natriuretic Peptides ; Nitrogen ; Overall ; Oxygen ; Partial Thromboplastin Time ; Patients ; Peptides ; Philippines ; Physicians ; Potassium ; Prothrombin ; Prothrombin Time ; Quality Of Health Care ; Referral And Consultation ; Sodium ; Statistics ; Tertiary Care Centers ; Thorax ; Thromboembolism ; Thromboplastin ; Thyroid Gland ; Time ; Troponin ; Troponin I ; Universities ; Urea ; Urinalysis ; Urine ; Venous Thromboembolism ; Vital Signs ; Work ; Workforce
3.Hereditary versus sporadic medullary thyroid carcinoma: A single tertiary centre cohort study
Qin Zhi Lee ; Raja Nurazni Raja Azwan ; Chin Voon Tong ; Zanariah Hussein
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):9-
Introduction:
Medullary thyroid carcinoma (MTC) comprises sporadic and hereditary forms, the latter commonly associated with
multiple endocrine neoplasia type 2 (MEN2) which is identifiable through genetic screening of germline RET protooncogene. We compared the clinicopathological features and outcomes of hereditary and sporadic MTC in our single
centre.
Methodology:
We conducted a retrospective audit of patients with MTC from 2000 to 2026. Patients were classified as either hereditary
or sporadic based on genetic testing and/or family history of MTC/MEN2A syndrome. Variables analyzed included age
at diagnosis, mode of presentation, pre-operative calcitonin, tumor size, lymph node (LN) involvement, post-operative
biochemical cure, repeat surgery and presence of structural residual/recurrent disease.
Results:
A total of 57 patients were included (18 hereditary [31.6%], 39 presumed sporadic [68.4%]) with a median follow-up of
7.5 years (IQR 1.5–12.4). Hereditary MTC was diagnosed at a significantly younger age than sporadic MTC (33.0 vs. 44.7
years, p = 0.010) where 33% of the cases were diagnosed via screening detection whereas sporadic MTC more commonly
presented with symptomatic neck swelling (84.6% vs. 50.0%, p = 0.008). There were no significant differences in median
pre-operative calcitonin (513.5 vs. 1148.0 pg/mL, p = 0.101), tumor size (24.5 vs. 22.5 mm, p = 0.301), or LN involvement
(41.7% vs. 61.5%, p = 0.307) between hereditary and sporadic MTC. Long-term outcomes were also comparable, with
no differences in biochemical status, need for repeat surgery or residual/recurrent structural disease.
Conclusion
Hereditary MTC presents earlier and is more frequently detected due to screening, whereas sporadic MTC often presents
symptomatically. Long-term outcomes are not primarily determined by hereditary status alone. Early access to RET
mutation testing with a view to initiating prophylactic treatments rather than post detection surgery may improve
disease burden.
Thyroid Neoplasms
;
Cohort Studies
4.A Single-Centre Malaysian Cohort Study on Predictors of Glycemic Improvement 12 Months After Bariatric Surgery
Anis Amalina Mohd Nadzri ; Mohd Shazli Draman ; Haron Ahmad
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):59-
Introduction:
Bariatric surgery is an established intervention for obesity
and its metabolic complications, including diabetes
mellitus. However, most studies are from Western
populations with limited data in Malaysia. This study
evaluated glycemic status improvements and identified
predictors of hemoglobin A1c (HbA1c) reduction at 12
months following bariatric surgery to contribute regional
data to Southeast Asia.
Methodology:
This retrospective analysis included 110 patients who
underwent bariatric surgery between 2015 and 2025.
Pre- and post-operative parameters, including HbA1c,
body mass index (BMI), and lipid profiles, were collected
at 1, 3, 6, 9, and 12 months and evaluated as potential
predictors of glycemic status improvement at 12 months.
Univariate analysis followed by stepwise multivariate
linear regression was performed to identify predictors of
HbA1c improvement at 12 months. Regression coefficients
(B), 95% confidence intervals, and p-values were reported.
Results:
The mean age was 40.5 years with a mean baseline BMI of
43.49 kg/m²; 58% were female. At baseline, 60.9% (n = 67)
had diabetes, 30.9% (n = 34) prediabetes, and 8.2% (n = 9)
normal HbA1c. In univariate analysis, baseline HbA1c (B
= 0.579, p <0.001), age (B = −0.051, p = 0.034), and sex (B =
1.123, p = 0.044) were significantly associated with HbA1c
change. In multivariate analysis, the final model identified
baseline HbA1c, BMI difference at 12 months, and TG
difference at 12 months as independent predictors of HbA1c change. Baseline HbA1c was the strongest predictor (B =
0.857, p <0.001) indicating that higher baseline HbA1c was
associated with greater change over time. BMI difference
at 12 months was also significantly associated with HbA1c
change (B = 0.046, p = 0.016), indicating that greater weight
loss contributed to improved glycemic control. Similarly,
TG difference at 12 months was a significant predictor (B =
0.337, p = 0.023). The model explained 86.8% of the variation
in HbA1c change (adjusted R² = 0.868).
Conclusion
Bariatric surgery resulted in significant weight loss and
improvement in glycemic status at 12 months, with baseline HbA1c, BMI differences, and TG reductions emerging
as key predictors of glycemic improvement in a Malaysian
cohort.
Cohort Studies
;
Bariatric Surgery
5.Etiological Yield and Treatment Patterns in Paediatric Arginine Vasopressin Deficiency: A Single-Centre Cohort Study
Siti Sarah Ahmad Dardiri ; Nalini M Selveindran ; Sok Bee Lim ; Arini Nuran Md Idris ; Janet YH Hong
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):125-
Introduction:
Arginine vasopressin deficiency (AVP‑D), previously termed central diabetes insipidus, is a rare paediatric endocrine
disorder that may present as an early manifestation of diverse hypothalamic–pituitary conditions. Identifying the
underlying etiology is crucial for guiding management and surveillance; however, in some children, the cause remains
unresolved, leading to primarily symptomatic treatment. In Malaysia, published literature on paediatric AVP‑D has been
limited to isolated case reports, with no cohort‑level data available. This study aims to describe the clinical features,
etiological spectrum, and treatment patterns of paediatric AVP-D in a single-centre Malaysian cohort, emphasizing
diagnostic yield, unresolved causes, and the central role of neuroimaging.
Methodology:
A retrospective review was conducted of children diagnosed with AVP-D. Data collected included age at symptom onset,
age at presentation, clinical features, etiological classification, neuroimaging findings, comorbidities, treatment modalities,
and follow-up outcomes. Descriptive statistics were used for analysis.
Results:
Twelve children were included, with a median age of 9.8 years; two-thirds were male. Children were referred at a median
age of 3.4 years, with presentation ranging from the neonatal period to 10.4 years. Diagnostic delay was minimal overall,
although 25% experienced delays exceeding 1 year. The water deprivation test was performed in 33.3% of patients.
Magnetic resonance imaging (MRI) was completed in all children and served as the principal determinant of etiology.
Structural abnormalities were identified in 50% of the cohort, including semilobar holoprosencephaly (33.3%), Arnold–
Chiari I malformation (8.3%), and pituitary stalk interruption syndrome (8.3%). The posterior pituitary bright spot was
absent in most patients, and 50% required repeat MRI to clarify evolving neurohypophyseal features. Tumor-related AVP-D
accounted for 8.3%, while one-third had no definitive etiology despite imaging. Initial therapy included desmopressin
(58.3%), hydrochlorothiazide (25%), and diluted sublingual desmopressin (8.3%), with most requiring dose escalation.
Growth impairment occurred in 66.7% of patients, and delayed puberty in 16.7%.
Conclusion
MRI played a central role in defining etiology, with half of the cohort demonstrating congenital structural abnormalities.
Persistent unresolved cases highlight the diagnostic challenges of AVP-D and underscore the importance of early MRI
and longitudinal endocrine follow-up.
Child
;
Cohort Studies
;
Diabetes Insipidus, Neurogenic
;
Arginine
6.When to choose intraosseous access in prehospital trauma care: A registry-based study from the Israel Defense Forces.
Mor RITTBLAT ; Nir TSUR ; Adi KARAS ; Sami GENDLER ; Zivan BEER ; Irina RADOMISLENSKY ; Ofer ALMOG ; Avishai M TSUR ; Guy AVITAL ; Tomer TALMY
Chinese Journal of Traumatology 2025;28(4):294-300
PURPOSE:
Prompt vascular access is crucial for resuscitating bleeding trauma casualties in prehospital settings but achieving peripheral intravenous (PIV) access can be challenging during hemorrhagic shock due to peripheral vessel collapse. Early intraosseous (IO) device use is suggested as an alternative. This study examines injury characteristics and factors linked to IO access requirements.
METHODS:
A registry-based cohort study from the Israel Defense Forces Trauma Registry (2010 - 2023) included trauma casualties receiving PIV or IO access prehospital. Casualties who had at least one documented PIV or IO access attempt were included, while those without vascular access were excluded. Casualties requiring both PIV and IO were classified in the IO group. Univariable logistic regression assessed the factors associated with IO access. Results were reported as odds ratios (OR) with 95% confidence intervals (CI), and significant difference was set at p < 0.05.
RESULTS:
Of 3462 casualties (86.3% male, the median age: 22 years), 3287 (94.9%) received PIV access and 175 (5.1%) had IO access attempts. In the IO group, 30.3% received freeze-dried plasma and 23.4% received low titer group O whole blood, significantly higher than that in the PIV group. Prehospital mortality was 35.0% in the IO group. Univariable analysis showed significant associations with IO access for increased PIV attempts (OR = 1.69; 95% CI: 1.34 - 2.13) and signs of profound shock (OR = 11.0; 95% CI: 5.5 - 23.3).
CONCLUSION
Profound shock signs are strongly linked to the need for IO access in prehospital settings with each successive PIV attempt increasing the likelihood of requiring IO conversion. IO access often accompanies low titer group O whole blood or freeze-dried plasma administration and higher prehospital mortality, indicating its use in emergent resuscitation situations. Early IO consideration is advised for trauma casualties with profound shock.
Humans
;
Male
;
Infusions, Intraosseous/methods*
;
Female
;
Registries
;
Israel
;
Emergency Medical Services/methods*
;
Adult
;
Young Adult
;
Wounds and Injuries/mortality*
;
Military Personnel
;
Resuscitation/methods*
;
Middle Aged
;
Shock, Hemorrhagic/therapy*
;
Cohort Studies
7.How does attention deficit/hyperactivity disorder affect driving behavior components? Baseline findings from Persian traffic cohort.
Sepideh HARZAND-JADIDI ; Mina GOLESTANI ; Leila VAHEDI ; Mahdi REZAEI ; Mostafa FARAHBAKHSH ; Homayoun SADEGHI-BAZARGANI
Chinese Journal of Traumatology 2025;28(5):370-377
PURPOSE:
Attention-deficit/hyperactivity disorder (ADHD) increases the risk of road traffic injuries through various mechanisms including higher risky driving behaviors. Therefore, drivers with ADHD are shown to be more prone to road traffic injuries. This study was conducted in a community-based sample of drivers to determine how ADHD affects driving behavior components.
METHODS:
At the cross-sectional phase of a national population-based cohort, a representative sample of 1769 drivers were enrolled. Manchester driving behavior questionnaire and Conners' adult ADHD rating scales were used to assess driving behavior and ADHD symptom scores, respectively. Data were analyzed using Stata version 17. Multiple linear regression was used to investigate the association of driving behavior with ADHD while adjusting for the potential confounding role of age, sex, marital status, educational level, driving history, etc. RESULTS: According to the results, the normalized driving behavior score of drivers with ADHD was 4.64 points higher than drivers without ADHD. Having an academic compared to school education, increased the driving behavior score by 1.73 points. The normalized driving behavior score of drivers under 18 years of age was 6.27 points higher than drivers aged 31-45 years. The score of the aggressive violation subscale of drivers with ADHD was 7.33 points higher than drivers without ADHD compared to an increment of a range of 4.50-4.82 points for other driving subscales. The score of the ordinary violation subscale of female drivers was 2.23 points lower than that of male drivers. No significant relationship was found between sex and other subscales of driving.
CONCLUSION
Drivers with ADHD who are in adolescence or early adulthood exhibit more dangerous and aggressive driving behaviors than those who are older. Implementing training interventions to increase awareness of drivers with ADHD, their families, and psychologists regarding the effects of ADHD on driving is an essential step in preventing motor vehicle crashes among drivers with ADHD.
Humans
;
Attention Deficit Disorder with Hyperactivity/psychology*
;
Automobile Driving/psychology*
;
Male
;
Adult
;
Female
;
Middle Aged
;
Cross-Sectional Studies
;
Accidents, Traffic
;
Iran
;
Adolescent
;
Surveys and Questionnaires
;
Young Adult
;
Cohort Studies
;
Risk-Taking
8.Explainable machine learning model for predicting septic shock in critically sepsis patients based on coagulation indexes: A multicenter cohort study.
Qing-Bo ZENG ; En-Lan PENG ; Ye ZHOU ; Qing-Wei LIN ; Lin-Cui ZHONG ; Long-Ping HE ; Nian-Qing ZHANG ; Jing-Chun SONG
Chinese Journal of Traumatology 2025;28(6):404-411
PURPOSE:
Septic shock is associated with high mortality and poor outcomes among sepsis patients with coagulopathy. Although traditional statistical methods or machine learning (ML) algorithms have been proposed to predict septic shock, these potential approaches have never been systematically compared. The present work aimed to develop and compare models to predict septic shock among patients with sepsis.
METHODS:
It is a retrospective cohort study based on 484 patients with sepsis who were admitted to our intensive care units between May 2018 and November 2022. Patients from the 908th Hospital of Chinese PLA Logistical Support Force and Nanchang Hongdu Hospital of Traditional Chinese Medicine were respectively allocated to training (n=311) and validation (n=173) sets. All clinical and laboratory data of sepsis patients characterized by comprehensive coagulation indexes were collected. We developed 5 models based on ML algorithms and 1 model based on a traditional statistical method to predict septic shock in the training cohort. The performance of all models was assessed using the area under the receiver operating characteristic curve and calibration plots. Decision curve analysis was used to evaluate the net benefit of the models. The validation set was applied to verify the predictive accuracy of the models. This study also used Shapley additive explanations method to assess variable importance and explain the prediction made by a ML algorithm.
RESULTS:
Among all patients, 37.2% experienced septic shock. The characteristic curves of the 6 models ranged from 0.833 to 0.962 and 0.630 to 0.744 in the training and validation sets, respectively. The model with the best prediction performance was based on the support vector machine (SVM) algorithm, which was constructed by age, tissue plasminogen activator-inhibitor complex, prothrombin time, international normalized ratio, white blood cells, and platelet counts. The SVM model showed good calibration and discrimination and a greater net benefit in decision curve analysis.
CONCLUSION
The SVM algorithm may be superior to other ML and traditional statistical algorithms for predicting septic shock. Physicians can better understand the reliability of the predictive model by Shapley additive explanations value analysis.
Humans
;
Shock, Septic/blood*
;
Machine Learning
;
Male
;
Female
;
Retrospective Studies
;
Middle Aged
;
Aged
;
Sepsis/complications*
;
ROC Curve
;
Cohort Studies
;
Adult
;
Intensive Care Units
;
Algorithms
;
Blood Coagulation
;
Critical Illness
9.Human papillomavirus carriage in the semen of men consulting for infertility: prevalence and correlations with sperm characteristics.
Armin PRIAM ; Antoine Le BOZEC ; Vasco Dias MEIRELES ; Fabien SAINT ; Rosalie CABRY ; Moncef BENKHALIFA ; Baptiste DEMEY ; Dorian BOSQUET
Asian Journal of Andrology 2025;27(2):196-203
We aim to study the semen carriage of human papillomavirus (HPV) and evaluate its association with patient characteristics. We conduct a single-center cohort study at Amiens University Hospital Center (Amiens, France). From May 1 to October 31, 2021, 461 men consulting for infertility and with semen analysis data were included. Each participant gave his written informed consent for the use of laboratory, demographic, clinical, and lifestyle data. A proportion of the semen samples were sent to a virology laboratory for HPV screening in a polymerase chain reaction (PCR) assay. In univariate and multivariate analyses with a logistic regression model, HPV + and HPV - groups were compared with regard to semen characteristics (including the DNA fragmentation index and the sperm decondensation index) and demographic, clinical, and lifestyle variables. Semen HPV carriage was detected in 22.3% of the patients. High-oncogenic-risk HPV genotypes were predominant (57.6%). Multivariate analysis showed that HPV carriage was significantly associated with the presence of at least one abnormal spermogram dinging (according to the 6 th World Health Organization criteria), with an adjusted odds ratio (OR) of 4.10 (95% confidence interval [CI]: 2.32-7.25, P < 0.001). A statistically significant association was also found for the type of infertility (OR: 1.61, 95% CI: 1.00-2.57, P = 0.05), the presence of varicocele (OR: 3.99, 95% CI: 1.48-10.71, P = 0.01), and a history of cryptorchidism, testicular ectopia, or monorchidism (OR: 3.54, 95% CI: 1.07-11.66, P = 0.04). Infection with a single HPV genotype or multiple HPV genotypes was significantly associated with at least one abnormal spermogram finding for all HPV oncogenic risk groups (OR: 3.93, 95% CI: 2.08-7.41, P < 0.001; and OR: 4.11, 95% CI: 1.58-10.68, P = 0.01, respectively). The association between sperm HPV carriage and the risk of infertility was statistically significant in a multivariate analysis (OR: 5.63, 95% CI: 3.16-10.01, P < 0.001) and after adjustment for the propensity score (OR: 6.10, 95% CI: 3.33-11.21, P < 0.001). Our results suggest that semen HPV carriage has an impact on male fertility. Sperm screening for HPV might be a useful addition to the work-up for male infertility.
Humans
;
Male
;
Adult
;
Infertility, Male/epidemiology*
;
Papillomavirus Infections/complications*
;
Semen/virology*
;
Semen Analysis
;
Prevalence
;
Papillomaviridae/genetics*
;
Cohort Studies
;
Spermatozoa/virology*
;
Middle Aged
;
France/epidemiology*
;
Human Papillomavirus Viruses
10.Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Yi LU ; Jing WANG ; Zhong-Lin CAI ; Teng-Yan LI ; Hong-Jun LI ; Bin-Bin WANG
Asian Journal of Andrology 2025;27(5):611-620
Individuals with congenital absence of the vas deferens (CAVD) may transmit cystic fibrosis (CF)-causing variants of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene to their offspring through assisted reproductive technology (ART). We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis. CFTR was sequenced in 145 Chinese individuals with CAVD. CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance. A comprehensive genotype analysis was performed in Chinese individuals with CAVD, incorporating previous studies and our study cohort. The prevalence of CF-causing variants was estimated through meta-analysis. In our cohort, 56 different CFTR variants were identified in 108 (74.5%) patients. Twenty variants were categorized as CF-causing and were detected in 28 (19.3%) patients. A comprehensive genotype analysis of 867 patients identified 174 different CFTR variants. Sixty-four were classified as CF-causing variants, 56.3% of which had not been previously reported in Chinese patients with CF. Meta-analysis showed that 14.8% (95% confidence interval [CI]: 11.0%-18.9%) CAVD cases harbored one CF-causing variant, and 68.6% (95% CI: 65.1%-72.0%) CAVD cases carried at least one CFTR variant. Our study underscores the urgent need for extensive CFTR screening, including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants, in Chinese individuals with CAVD before undergoing ART. The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.
Adult
;
Humans
;
Male
;
China
;
Cohort Studies
;
Cystic Fibrosis/genetics*
;
Cystic Fibrosis Transmembrane Conductance Regulator/genetics*
;
Genotype
;
Male Urogenital Diseases/genetics*
;
Mutation
;
Vas Deferens/abnormalities*
;
East Asian People/genetics*


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